Canonical Allele Identifier: CA16043513

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 373943
• ClinVar RCV Id: RCV000414795 ; RCV000760803 ; RCV003326423
• dbSNP Id: rs1057518789
• MyVariant Identifiers: chr16:g.3778804G>A (hg19) ; chr16:g.3728803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728803G>A , CM000678.2:g.3728803G>A	GRCh38
NC_000016.9:g.3778804G>A , CM000678.1:g.3778804G>A	GRCh37
NC_000016.8:g.3718805G>A	NCBI36
NG_009873.1:g.156318C>T
NG_009873.2:g.156911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6244C>T MANE Select	ENSP00000262367.5:p.Gln2082Ter
ENST00000262367.9:c.6244C>T	ENSP00000262367.5:p.Gln2082Ter
ENST00000382070.7:c.6130C>T	ENSP00000371502.3:p.Gln2044Ter
NM_001079846.1:c.6130C>T	NP_001073315.1:p.Gln2044Ter
NM_004380.2:c.6244C>T	NP_004371.2:p.Gln2082Ter
XM_005255124.3:c.6199C>T	XP_005255181.1:p.Gln2067Ter
XM_005255125.3:c.5827C>T	XP_005255182.1:p.Gln1943Ter
XM_006720848.2:c.5983C>T	XP_006720911.1:p.Gln1995Ter
XM_011522380.1:c.6190C>T	XP_011520682.1:p.Gln2064Ter
XM_011522381.1:c.5491C>T	XP_011520683.1:p.Gln1831Ter
XM_005255124.4:c.6199C>T	XP_005255181.1:p.Gln2067Ter
XM_005255125.4:c.5827C>T	XP_005255182.1:p.Gln1943Ter
XM_006720848.3:c.5983C>T	XP_006720911.1:p.Gln1995Ter
XM_011522381.2:c.5491C>T	XP_011520683.1:p.Gln1831Ter
XM_017022944.1:c.6238C>T	XP_016878433.1:p.Gln2080Ter
NM_004380.3:c.6244C>T MANE Select	NP_004371.2:p.Gln2082Ter